The UMD-APC mutations database
Record ID: 3840

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.4187_4188delTTp.Phe1396X

wt codonwt aamutant codonmutant aamutational eventmutation type
TTTPhedel2bFs.Stop at 1396Fr.

StructureKey Residue (HCD)Pyrimidin doubletCpG
Beta-catenin degradation domai 

Mutation impact


At the mRNA levelOn restriction map
New restriction site(s): none
Lost restriction site(s): none

Patient and sample data


Sample IDPatient status
SO_-73740394039Relative

Clinical data


Symptom

Reference


Reference IDReference
71Unpublished data